Genomic variant #0000001545

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.129281470_129281472del
Published as -
GERP -
Segregation -
DB-ID AIFM1_000001
dbSNP ID rs387906500
Frequency -
Sources ; clinVar;
Reference 20362274
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
AIFM1 NM_001130847.3 +/+ - - c.601_603del p.(Arg201del) - - - -
AIFM1 NM_004208.3 +/+ - - c.601_603del p.(Arg201del) - - - -
AIFM1 NM_145812.2 +/+ - - c.589_591del p.(Arg197del) - - - -
AIFM1 NM_145813.2 +/+ - - c.107-10312_107-10310del p.(=) - - - -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None